Conditions / Genetic
autosomal recessive pseudohypoaldosteronism type 1
info · Genetic
A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium
A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.
Signs and symptoms
- Hyperkalemia
- Increased circulating aldosterone concentration
- Hyponatremia
- Dehydration
- Hypotension
- Metabolic acidosis
- Diarrhea
- Vomiting
- Pseudohypoaldosteronism
- Failure to thrive
Also known as: PHA1B; autosomal recessive PHA 1